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21 Possible Causes for Infantile-Onset Seizures, Relative Prognathism

  • Early Infantile Epileptic Encephalopathy Type 2

    She was also autistic but had relatively better motor skills than the other girls.[genome.jp] Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset[dx.doi.org] A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination[medical-dictionary.thefreedictionary.com]

  • Baller-Gerold Syndrome

    Head and neck: Craniosynostosis, steep forehead, oxycephaly, micrognathia, relative mandibular prognathism, and midline capillary hemangioma.[whonamedit.com] GM1G2 is characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures.[abcam.com] Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[rrnursingschool.biz]

  • Acrorenal Mandibular Syndrome

    […] proptosis nasal beaking obtuse mandibular gonial angle often with relative prognathism persistence of primary teeth Other vertebral body sclerosis increased lumbar lordosis[radiopaedia.org] […] muscular dystrophy Gray platelet syndrome Adult-onset citrullinemia type II Osteopoikilosis and dacryocystitis Spinal muscular atrophy type 3 Paris-Trousseau thrombocytopenia[checkrare.com] […] acro-osteolysis delayed bone age Cranial and maxillofacial marked delay in sutural closure frontoparietal bossing calvarial thickening Wormian bones (lambdoidal region) relative[radiopaedia.org]

  • Simpson Dysmorphia Syndrome

    […] mandibular prognathism, shallow orbit Jackson-Weiss syndrome 123150 AD craniosynostosis, midfacial hypoplasia Apert syndrome 101200 AD craniosynostosis, brachysphenocephalic[widesmiles2.org] […] muscular dystrophy Gray platelet syndrome Adult-onset citrullinemia type II Osteopoikilosis and dacryocystitis Spinal muscular atrophy type 3 Paris-Trousseau thrombocytopenia[checkrare.com] […] upper lip -premaxillary agenesis describe crouzon craniofacial dysostosis -autosomal dominant -craniosynostosis -parrot-beaked nose -short upper lip -hypoplastic maxilla -relative[brainscape.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] mandibular prognathism, and malocclusion are typical findings in this syndrome.[entokey.com] seizures or infantile spasms, loss of communication and motor skills, and severe intellectual disability.[chginc.org] Complicated febrile seizure (focal, 15 mins or repeated in Infantile spasms (West syndrome) Clinical Features: Epileptic spasms – brief tonic seizures Occurs in series over[aimted.com]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    […] macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral[orpha.net] Bronchiectasis Hypodontia Sparse hair Infantile onset Lymphadenopathy Attention deficit hyperactivity disorder Neoplasm Milia Small for gestational age Hypoglycemia Osteoporosis[mendelian.co] […] spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative[orpha.net]

  • Pallister W Syndrome

    (relative or absolute), dental cysts, broad nasal bridge, hypertelorism, bifid uvula or partial cleft plate, pectus excavatum, fused cervical spinous processes, penoscrotal[findzebra.com] […] disorder Parkinsonism with alveolar hypoventilation and mental depression - See Perry syndrome Parkinsonism, early onset, with diurnal fluctuation - See Autosomal recessive[herenciageneticayenfermedad.blogspot.com] Among the children of a first-cousin couple, Elsahy and Waters (1971) described three boys with an identical syndrome of mental retardation, maxillary hypoplasia, mandibular prognathism[findzebra.com]

  • Raine Syndrome

    prognathism Secondarily edentulous Hydrocephalus, impaired early development, with an increase in age severe developmental delay observed Simpson et al., 2009 [ 11 ] 12 c[bmcmedgenet.biomedcentral.com] […] muscular dystrophy Gray platelet syndrome Adult-onset citrullinemia type II Osteopoikilosis and dacryocystitis Spinal muscular atrophy type 3 Paris-Trousseau thrombocytopenia[checkrare.com] […] placed right eye, low-set and protuberant ears, flat nasal bridge with rounded and bulbous nasal tip and prominent alae nasi, sunken midface, wide mouth with large tongue, relative[bmcmedgenet.biomedcentral.com]

  • Sclerosteosis Type 2

    The mandible has an open (obtuse) angle that causes relative prognathism.[rrnursingschool.biz] Clinodactyly Congenital cataract Deeply set eye Gait ataxia Hyperhidrosis Coarse facial features Infantile onset Respiratory distress Narrow forehead Infantile muscular hypotonia[mendelian.co] […] palpebral fissures Kyphosis Abnormality of the dentition Spasticity Microcephaly Pica Depressivity Short philtrum Broad forehead Polyphagia Postnatal growth retardation Absence seizures[mendelian.co]

  • Crane-Heise Syndrome

    […] mandibular prognathism, small and angular face, long neck, drooping shoulder, hypermobility of shoulders, narrow chest, tapering fingers, short and broad thumbs, asymmetrical[indjos.com] , and Intellectual Developmental Disorder Dysmyelination with Jaundice dysplastic nevus syndrome early infantile epileptic encephalopathy 9 Early Onset Parkinsonism with Mental[rgd.mcw.edu] […] forehead, frontal, parietal and occipital bossing (Arnold head), hypertelorism, prominent orbital ridges, depressed nasal bridge, broad base of the nose, mid-facial hypoplasia, relative[indjos.com]

Further symptoms